The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder

Agatino Battaglia

Research output: Contribution to journalArticlepeer-review

Abstract

The chromosome region 15q11q13 is known for its instability, and many rearrangements may occur in this imprinted segment: deletions associated either with Angelman syndrome (AS) or with Prader-Willi syndrome (PWS), according to parental origin; translocations; inversions; and supernumerary marker chromosomes formed by the inverted duplication of proximal chromosome 15. Inv dup(15) constitute the most common of the heterogeneous group of the extra structurally abnormal chromosomes, and their presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome region, are associated with altered behaviour, developmental delay/mental retardation, and seizures/epilepsy. Clinicians should suspect this syndrome in any infant/child with early central hypotonia, minor dysmorphic features, developmental delay, autism or autistic-like behaviour, and who subsequently develops hard to control seizures/epilepsy. Diagnosis is confirmed by standard cytogenetic techniques and FISH analysis. Although, about 100 cases have been reported to date, limited data are available on the natural history. To obtain better information on diagnosis and outcome in a clinical setting, we reviewed the available literature on clinical and behavioural phenotype of inv dup(15) syndrome.

Original languageEnglish
Pages (from-to)365-369
Number of pages5
JournalBrain and Development
Volume27
Issue number5
DOIs
Publication statusPublished - Aug 2005

Keywords

  • Autism/autistic-like behaviour
  • Epilepsy
  • Inv dup(15) syndrome
  • Isodicentric chromosome 15 syndrome [idic(15)]
  • Mental retardation
  • Supernumerary marker chromosomes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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